HPIi011-A

Not yet reviewed by Australian Stem Cell Registry

MYH7-18681-R1A

Details

Tissue & Disease as reported

Biopsy Location
Ontology ID: fma9670
Label: Portion of blood
Definition: Portion of body substance which has as its parts plasma and blood cells.
Tissue for derived iPSC
Disease as reported (Donor)
myh7-related skeletal myopathy
Disease as reported (External Source)
myh7-related skeletal myopathy

Genetic Information

Genotype Locus
MYH7
Polymorphism
Heterozygous: NM_000257.4:c.4850_4852delAGA(NP_000248.2:p.Lys1617del)

Associated Publications

Journal Year Article
Stem Cell Research 2024 Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant.

Line Custodianship

Cell Line Maintainer

Clayton

Affiliated Institutions
  • Harry Perkins Institute of Medical Research, Nedlands, Australia
View all cell lines from this group

Cell Line Producer

Harry Perkins Institute of Medical Research

Affiliated Institutions
  • Harry Perkins Institute of Medical Research, Nedlands, Australia

Source

Donor Derived

Age: 20-24

Biological Sex: Male

Disease: MONDO:0008050
Label: MYH7-related skeletal myopathy
Definition: Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

External Cell Line

Genethon

Disease: myh7-related skeletal myopathy

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: EFO:0022546
Label: LCL
Definition: Human cell line from tissue infected with Epstein-Barr virus, resembling a lymphoblast

Source Cell Origin: UBERON:0000178
Label: blood
Definition: A fluid that is composed of blood plasma and erythrocytes.

Derivation Year: 2022

Reprogramming Method

Vector Type: Not integrated

Vector: Sendai Virus

Kit: [kit] CytoTune-iPS 2.0 Sendai reprogramming kit

Detected: No

Ethics

Ethics Number: RA/4/20/1008

Institution Human Research Ethics Council: University of Western Australia Human Research Ethics Committee

Approval Date: To be verified

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 13

Karyotype: 46,XY

Karyotype Method: G-banding

Summary: Karyotyping occurred at a resolution of 400 bphs (15 metaphase spreads were counted, 5 were analyzed).

STR analysis Results:

Performed but not available.

Genome wide or Functional Assay:

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
POU5F1 (OCT-4) Immunostaining
POU5F1 (OCT-4) RT-PCR
SOX2 Immunostaining
SOX2 RT-PCR
SSEA-4 Immunostaining
TRA 1-60 Immunostaining
NANOG RT-PCR
CRIPTO RT-PCR

Scorecard Results

Undifferentiated Cells

No available data for this cell line.

Pluripotency

No available data for this cell line.

Pluripotency Characterisation

Endoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: SOX17

Mesoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: Brachyury

Ectoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: OTX2

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: 20%

Medium Items:

  • Base Medium: mTeSR Plus - STEMCELL Technologies
  • Base Coat: Growth Factor Reduced Matrigel - Corning
  • Supplement: ROCK inhibitor (Y-27632) at passage

Passage Method: Enzyme-free cell dissociation